A54T (p.Ala54Thr) variant of ERCC2 (P18074)
A54T (p.Ala54Thr) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs992698178
- ClinGen CA406379484
- cosmic curated COSV55540
- ClinVar RCV002394820
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.43
- MetaLR 0.24
- MetaSVM -0.77
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)